Genetics final according to his list Flashcards

1
Q

Cell theory, the different dates, what was found by who.

A
  • 1665 - Robert Hooke, observed cells for the first time
  • 1683 - Anton van Leeuwenhoek, discovered living organisms in water
  • 1833 - Brown, discovered the nucleus in the cell
  • 1858 - Rudolf Virchow, summarized the state of the current knowledge in Latin. (All cells come from preexisting cells)
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2
Q

Evolution theory, when? By who? What?

A
  • In 1859
  • By Charles Darwin
  • Theory about the origin of species. Including work about natural selection.
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3
Q

Mendel laws, When? By who? What are they?

A
  • 1865, by Gregor Mendel
  1. The law of segregation - Alleles segregate randomly into gametes
  2. The law of independent assortment - genes do not influence each other with regard to the sorting of alleles into gametes
  3. The law of dominance - If you breed two individuals with different traits the next generation will have one of each. The trait that is visible is the dominant one.
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4
Q

Chromosomal theory, Theodor Boveri, Walter Sutton and Walter Fleming, what did they discover?

A
  • Theodor Boveri - Studied roundworms with only two pairs of chromosomes. He found that only the germline retained full chromosome complement.
  • Walter Sutton - Used testes of a lubber grasshopper to trace 11 chromosome pairs and one singleton - the sex chromosome
    (Chromosomal theory of inheritance)
  • Walter Fleming - Discovered Chromatin and described mitosis by using innovative microscopy
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5
Q

Chromosomal theory, what did Thomas Hunt Morgan try to prove and when?

A
  • He tried to prove that hereditary traits are carried by chromosomes. He did this by using fruit flies.
  • He tried to prove this in 1910
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6
Q

Transforming factor, What did Frederick Griffith discover and when?

A
  • Frederick Griffith - discovered bacterial transformation, in 1928.
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7
Q

Who solved the mystery of the transforming principle and when?

A
  • Oswald Avery
  • Colin MacLeod
  • Maclyn McCart
  • in 1944 using a process of elimination
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8
Q

DNA structure was found by who and when?

A
  • F. crick, J. Watson, R. Franklin and M. Wilkins
  • 1953
  • They identified the double helix structure of DNA
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9
Q

Genetic code, founded by who and when?

A
  • Khorana, Nirenberg and Ochoa
  • In 1966
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10
Q

One gene-one enzyme, order

A

Archibald Garrod - suggested that genes were connected to enzymes

Beadle and Tatum - confirmed the hypothesis

(each gene controls the synthesis or activity of a single enzyme.)

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11
Q

Transposons, restriction enzymes

A

Jumping genes - identified in 1948 by Barbara McClintock

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12
Q

General information about DNA sequencing now and then

A
  • Fredric Sanger revealed a new method for DNA sequencing in 1977
  • Now newer methods have drastically cut the cost of sequencing. This may at some point allow every person the possibility of personalized genome information.
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13
Q

Nuclear and mitochondrial genome

A

Nuclear genome:
- 3 200 000 000 base pairs in 23 linear particles - chromosomes
- 22 autosomes and 2 sex chromosomes
- totally ca. 20 000 - 25 000 genes

Mitochondrial genome:
- 16 569 base pairs in 1 circular particle
- Contains 37 genes
- Many copies in the mitochondria

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14
Q

Cell cycle

A

The cell cycle is divided into I for Interphase and M for mitosis/meiosis

Interphase consists of:
- G1 - the gap 1 phase
- S - the synthesis phase
- G2 - the gap 2 phase
- G0 - the resting phase

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15
Q

Mitosis - stages and events

A
  • Prophase:
    – Chromatids become linked with centrioles
    – Centrioles travel to the poles
    – Nucleolus disappears
    – Nuclear membrane disappears
  • Metaphase:
    – Development of the spindle apparatus
    – Chromatids are still linked by centromeres
    – Chromosomes are located in a line in the middle
  • Anaphase:
    – Microtubules shrink
    – Sister chromatids travel to the cell’s poles
  • The amount of genetic material changes
  • Telophase:
    – Nuclear membrane development
    – Centriole division
    – Nucleolus development
  • Cytokinesis:
    – Midbody structure formation
    – Cell regeneration
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16
Q

Meiosis - stages and events

A
  • Prophase 1:
    – A step where crossing over can occur.
    – Nucleolus disappears
    – Nuclear membrane disappears

Metaphase 1:
– Development of the spindle apparatus
– Chromatids are still linked by centromeres
– Chromosomes are located in a line in the middle

  • Anaphase 1:
    – Microtubules shrink
    – Sister chromatids travel to the cell’s poles
  • The amount of genetic material changes
  • Telophase 1 and cytokinesis:
    – Nuclear membrane development
    – Nucleolus development
    – Cytoplasm division

Prophase 2, Metaphase 2, Anaphase 2 and Telophase 2 + Cytokinesis are pretty much the same further on.

17
Q

Meiosis prophase 1 steps in detail

A

It has 5 steps:
- Leptotene

  • Zygotene
    – Homologous chromosome conjugation (synapsis)
    – SC (synaptonemal complex) - protein structure along the chromosomes linking them together
  • Pachytene
    – Bivalents were formed
    – Crossing over occurs here
  • Diplotene
    – SC disappears
    – Chromosomes in bivalents remain linked only by the chiasmata
  • Diakinesis
    – Chromosome compacting
    – Chiasmata starts to terminalize
    – Nucleus disappears
18
Q

Meiosis crossing over in detail

A

Its when each C-O reduces the chance of the next C-O in the close location. This is called interference and guarantees that C-O sites will be evenly spread across the chromosome and different chromosomes.

19
Q

Meiosis genetic diversity and recombination

A
  • It is the secondary source of genetic diversity through recombination

Genetic recombination:
1. non-sister chromatids exchange their parts - crossing over in prophase 1

  1. Chromosomes are shuffled and separated to new nuclei - anaphase 1
  2. Chromatids are shuffled and separated to new cells - anaphase 2
20
Q

Sexual reproduction, what is the role of sexual reproduction and gametogenesis, male vs female

A

Gametogenesis - cell division and differentiation leading to formation of haploid gametes with recombined chromosomes

what is the role of sexual reproduction?:
- Increasing the biodiversity inside a species, that allows the population to survive in a changing environment

Male and female gametogenesis is just meiosis but the end result is sperm and oocytes

21
Q

Eucaryotic vs Procaryotic chromosomes

A

Eucaryotic:
- Composed of ONE or TWO linear double helix DNA molecules and specialized proteins holding them tight in a condensed form. It has many replication initiation sites.

Procaryotic:
- Composed of ONE circular double helix DNA molecule. It has only one replication initiation site.

22
Q

Polytene chromosomes, balbiani rings/puffs

A

Polytene chromosomes:
- develop from the chromosomes of diploid nuclei by successive duplication of each chromosomal element (chromatid) without their segregation

Balbiani rings/puffs:
- a large chromosome puff in the polytene chromosome

23
Q

Interphase chromatin organization

A
  • relatively decondensed and distributed throughout the nucleus
24
Q

Nucleosome structure (with histone names)

A

Histone names:
- H2A, H2B, H3, and H4.

25
Q

Gene expression regulation by histone modification

A
  • altering between transcriptional activation and repression
26
Q

Chromosome structure and morphology

A

We also name them based on where the centromere is placed:
1. Telocentric - two equal legs are made and the centromere is just on top

  1. Acrocentric - similar, but it has two tiny arms on top
  2. Submetacentric - same again, but the arms get longer
  3. Metacentric - normal chromosome length (all arms equal)
27
Q

Ploidy vs DNA amount

A

Humans:
- Gametes - Haploid (1n = 23 chromosomes)
- Somatic cells - Diploid (2n = 46 chromosomes)
- Other organisms (usually plants) can be triploid, tetraploid… 1024-ploid…

Amount of DNA
- Gametes - 1C
- Somatic cells before replication - 2C
- Somatic cells after replication - 4C

28
Q

Karyotype, definition, human

A
  • The number and the appearance of chromosomes in the nucleus of an eukaryotic cell sorted by their decreasing length in homologous pairs

Human karyogram includes:
- 22 chromosome pairs + 2 sex chromosomes

29
Q

Karyotypes of domestic animals

A
  • Sheep - (2n = 54) 3 pairs of large metecentric chromosomes and 23 pairs of acrocentric chromosomes + 2 sex chromosomes (total 27 pairs)
  • Bee - 2n = 32 (total 16 pairs)
  • Males are haploid
  • Goat - 2n = 60, 29 pairs of acrocentric chromosome and 2 sex chromosomes (total 30 pairs)
  • Cat - 2n = 38, 17 meta and submetacentric chromosomes, 2 pairs of acrocentric chromosomes included in that 2 sex chromosomes (total 19 pairs)
  • Fox - 2n = 34 + B, 16 pairs of chromosomes + sex chromosomes (total 17 pairs)
  • Domestic fowl - 2n = 78, 38 pairs of normal and 1 pair of sex chromosomes (total 39 pairs) (decreasing in size)
  • Horse - 2n = 64, 31 pairs of normal chromosomes and 1 pair of sex chromosomes (total 32 pairs)
  • Pig - 2n = 38, 18 pairs of normal and 1 pair of sex chromosomes (total 19 pairs)
  • Cattle - 2n = 60, 29 pair of normal and 1 pair of sex chromosomes (total 30 pairs)
  • Dog - 2n = 78, 38 pairs of normal and 1 pair of sex chromosomes (total 39 pairs)
30
Q

Aneuploidy in human, causes, risk factors and common trisomies

A

Most common chromosomal abnormalities

Causes:
- Errors in anaphase 1 and 2 in meiosis can cause chromosomal abnormalities like aneuploidy

Common trisomies:
- 21 - Down syndrome
- XXY - Klinefelter syndrome
- 18 - Edwards syndrome
- 13 - Patau syndrome

31
Q

G-banding, what stain and what does it show?

A

Giemsa stain

  • It shows darker colors in regions with high A-T content
  • Light color in active regions
32
Q

Q-banding, what stain and what does it show?

A

Quinacrine stain

  • It shows fluorescent bands in regions with high A-T content
33
Q

R-banding, what stain and what does it show?

A

Reverse Giemsa stain

  • It shows dark bands in places with high G-C content

(Inverted G-banding)

34
Q

C-banding, what stain and what does it show?

A

Constitutive heterochromatin stain

  • Dark bands in densely packed heterochromatic regions
35
Q

Ag-NOR banding, what does it show?

A

It shows dark bands in nucleoar organising regions